ABCMdb

PMID: 15579991

Oh KT, Weleber RG, Stone EM, Oh DM, Rosenow J, Billingslea AM
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
Retina. 2004 Dec;24(6):920-8., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCA4 p.Ala1038Val ABCA4 p.Pro1380Leu ABCA4 p.His423Arg The most common of these were His423Arg (9), frameshift mutations (7), Ala1038Val (7), and Pro1380Leu (6). Login to comment 10 ABCA4 p.His423Arg Although no patients with His423Arg presented with normal ERGs, no significant correlation was observed between specific sequence variations and the electroretinographic characteristics or fundus appearance. Login to comment 13 ABCA4 p.His423Arg No direct correlation between clinical appearance, electrophysiologic characteristics and specific ABCA4 alleles could be identified, although a significantly lower number of our cohort with a normal ERG exhibited detectable coding sequence variations in the ABCA4 gene. However, four patients with ERG dysfunction were homozygous for a His423Arg change proven by QPCR not to be an artifact of a deletion. Login to comment 88 ABCA4 p.Arg1898His An Arg1898His mutation was found in one allele of the ABCA4 gene. Patient 4 A 61-year-old woman presented with decreased central and peripheral vision. Login to comment 96 ABCA4 p.Cys2150Tyr An ABCA4 mutation, Cys2150Tyr, was identified on one allele. Login to comment 98 ABCA4 p.Cys2150Tyr Her son also demonstrates signs consistent with severe progressive STGD and has a mutation in each allele, Cys2150Tyr and a splice donor mutation. Login to comment 165 ABCA4 p.Ala1038Val ABCA4 p.Leu2027Phe ABCA4 p.Arg1108Cys ABCA4 p.Pro1380Leu ABCA4 p.His423Arg In fact, the six most common HPRDCV, with the exception of His423Arg, (frameshift changes, Ala1038Val, Pro1380Leu, Arg1108Cys, Leu2027Phe) were observed with all three ERG classes: severe ERG derangements, mild ERG derangements, and normal ERG studies. Login to comment 170 ABCA4 p.Gly1961Glu ABCA4 p.His423Arg The common Gly1961Glu sequence variation was notably absent from patients with severe ERG findings but was present in two patients with normal ERGs and one patient with mild ERG derangements, suggesting that this is either a marker polymorphism for a heretofore unidentified mutation or itself a mild disease-causing allele.34 However, His423Arg was only seen in patients with electrophysiologic derangements, suggesting that it may have a marked effect on gene function or lead to greater loss of photoreceptor function. Login to comment 172 ABCA4 p.His423Arg ABCA4 p.Leu1014Arg The fifth patient, who also manifested a severely affected ERG, was heterozygous for His423Arg with the other allele bearing a Leu1014Arg change. Login to comment